title: First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome.
abstract: Sjögren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene. Prenatal diagnosis and PCR-based mutation analysis was performed in a pregnancy where the parents are heterozygous carriers for this mutation. The fetus was found to be homozygous for the mutation and thus affected by SLS.
authors.affiliation: Department of Clinical Genetics, University Hospital, Uppsala, Sweden. Anna.Sillen@klingen.uu.se
authors.forename: A
authors.initials: A
authors.lastname: Sillén
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000028:Abortion, Induced; D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000032:analysis* / Q000235:genetics; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016111:Sjogren-Larsson Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics
chemical_list: D017931:DNA Primers; D004247:DNA; D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase